Immunodeficiency Associated with a Nonsense Mutation of IKBKB

Journal of Clinical Immunology

Volumn 34, Issue 8, 2014, Pages 916-921

  Nielsen, Christian ^a   Jakobsen, Marianne A ^a   Larsen, Martin Jakob ^a,b   Müller, Amanda C ^a   Hansen, Soren ^b   Lillevang, Søren T ^a   Fisker, Niels ^a   Barington, Torben ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

BCG vaccine; IKBKB; IKK ; immunodeficiency; NF B; SCID

Indexed keywords

ACICLOVIR; AMIKACIN; COTRIMOXAZOLE; ETHAMBUTOL; FLUCONAZOLE; GAMMA INTERFERON; I KAPPA B KINASE BETA; IMMUNOGLOBULIN; INTERLEUKIN 2; ISONIAZID PLUS RIFAMPICIN; MOXIFLOXACIN; I KAPPA B KINASE; STOP CODON;

ABDOMINAL DISTENSION; ANTIBIOTIC PROPHYLAXIS; ARTICLE; BACTEREMIA; BOVINE TUBERCULOSIS; CASE REPORT; CATHETER INFECTION; CHILD; CONSANGUINEOUS MARRIAGE; DEATH; DRUG DOSE ESCALATION; DRUG WITHDRAWAL; FEMALE; FEVER; GENE SEQUENCE; GENETIC SCREENING; HEART ARREST; HOMOZYGOSITY; HUMAN; HYPER IGM SYNDROME; IATROGENIC DISEASE; IMMUNE DEFICIENCY; IN VITRO STUDY; INFECTION PREVENTION; LYMPHOCYTE PROLIFERATION; MYCOBACTERIOSIS; MYCOBACTERIUM BOVIS; NECROSIS; NONSENSE MUTATION; PNEUMOCYSTIS JIROVECI; PNEUMOCYSTIS PNEUMONIA; PRESCHOOL CHILD; RESPIRATORY FAILURE; RESUSCITATION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SPLENOMEGALY; TURKEY (REPUBLIC); ADVERSE EFFECTS; COMPLICATION; FATALITY; GENETICS; INFANT; PATHOLOGY; STOP CODON; TUBERCULOSIS; VACCINATION;

CODON, NONSENSE; FATAL OUTCOME; FEMALE; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MYCOBACTERIUM BOVIS; PNEUMOCYSTIS JIROVECII; PNEUMONIA, PNEUMOCYSTIS; RESPIRATORY INSUFFICIENCY; TUBERCULOSIS; VACCINATION;

EID: 84911980053     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0097-1     Document Type: Article

References (19)

1. Oeckinghaus A, Hayden MS, Ghosh S. Crosstalk in NF-κB signaling pathways. Nat Immunol. 2011;12:695–708.
2. Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003;112:1108–15.
3. Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, et al. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol. 2013;33:1088–99.
4. McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS. Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immunol. 2007;120:900–7.
5. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). J Hum Genet. 2000;67:1555–62.
6. Piatosa B, Wolska-Kusnierz B, Pac M, Siewiera K, Galkowska E, Bernatowska E. B cell subsets in healthy children: Reference values for evaluation of B cell maturation process in peripheral blood. Cytometry B Clin Cytom. 2010;78:372–81.
7. Pahwa R, Chatila T, Pahwa S, Paradise C, Day NK, Geha R, et al. Recombinant interleukin 2 therapy in severe combined immunodeficiency disease. Proc Natl Acad Sci U S A. 1989;86:5069–73.
8. Matsumoto S, Ozono K, Yamamoto T, Yamaoka K, Okamura T, Hara J, et al. Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. J Bone Miner Metab. 2000;18:36–40.
9. Yilmaz-Demirdag Y, Wilson B, Lowery-Nordberg M, Bocchini Jr JA, Bahna SL. Interleukin-2 treatment for persistent cryptococcal meningitis in a child with idiopathic CD4(+) T lymphocytopenia. Allergy Asthma Proc. 2008;29:421–4.
10. Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, del Angel G, Levy‐Moonshine A, et al. From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline. Current Protocols in Bioinformatics. John Wiley & Sons, Inc. Published online 15 October 2013 doi 10.1002/0471250953.bi1110s43.
11. Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. 2013;369:2504–14.
12. Li Z-W, Chu W, Hu Y, Delhase M, Deerinck T, Ellisman M, et al. The IKKbeta subunit of IkB kinase (IKK) is essential for Nuclear factor kappaB activation and prevention of apoptosis. J Exp Med. 1999;189:1839–45.
13. Schmidt-Supprian M, Courtois G, Tian J, Coyle AJ, Israël A, Rajewsky K, et al. Mature T cells depend on signaling through the IKK complex. Immunity. 2003;19:377–89.
14. Pasparakis M, Schmidt-Supprian M, Rajewsky K. IkappaB kinase signaling is essential for maintenance of mature B cells. J Exp Med. 2002;196:743–52.
15. Lupino E, Ramondetti C, Piccinini M. IκB kinase β is required for activation of NF-κB and AP-1 in CD3/CD28-stimulated primary CD4(+) T cells. J Immunol. 2012;188:2545–55.
16. Hu Y, Baud V, Oga T, Kim KI, Yoshida K, Karin M. IKKalpha controls formation of the epidermis independently of NF-kappaB. Nature. 2001;410:710–4.
17. Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, et al. Mutant CHUK and severe fetal encasement malformation. N Engl J Med. 2010;363:1631–7.
18. Nottingham LK, Yan CH, Yang X, Si H, Coupar J, Bian Y, et al. Aberrant IKKα and IKKβ cooperatively activate NF-κB and induce EGFR/AP1 signaling to promote survival and migration of head and neck cancer. Oncogene. 2014;33:1135–47.
19. Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. Charge syndrome: a review. J Paediatr Child Health. 2014;50:504–11.